TGFBR2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.35614137
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.35614137
3antigen processing and presentation of endogenous antigen (GO:0019883)4.11672908
4antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.57677282
5vascular endothelial growth factor signaling pathway (GO:0038084)3.56593940
6apoptotic cell clearance (GO:0043277)3.51016099
7positive regulation of gamma-delta T cell activation (GO:0046645)3.42038122
8response to laminar fluid shear stress (GO:0034616)3.36239083
9cell adhesion mediated by integrin (GO:0033627)3.32785209
10regulation of interferon-beta biosynthetic process (GO:0045357)3.30746148
11protein heterotrimerization (GO:0070208)3.28552219
12regulation of gamma-delta T cell differentiation (GO:0045586)3.21251267
13endothelium development (GO:0003158)3.18942390
14basement membrane organization (GO:0071711)3.17059490
15cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.14256332
16hypotonic response (GO:0006971)3.13212867
17keratan sulfate catabolic process (GO:0042340)3.10851381
18negative regulation of fibrinolysis (GO:0051918)3.10519641
19skin morphogenesis (GO:0043589)3.09058817
20endodermal cell differentiation (GO:0035987)3.08313462
21regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.07327739
22macrophage activation involved in immune response (GO:0002281)3.05493308
23collagen fibril organization (GO:0030199)3.02961925
24endothelial tube morphogenesis (GO:0061154)3.01887450
25morphogenesis of an endothelium (GO:0003159)3.01887450
26positive regulation of receptor recycling (GO:0001921)3.01554393
27modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.97653257
28positive regulation by organism of defense response of other organism involved in symbiotic interact2.97653257
29modulation by symbiont of host immune response (GO:0052553)2.97653257
30positive regulation by symbiont of host defense response (GO:0052509)2.97653257
31modulation by symbiont of host defense response (GO:0052031)2.97653257
32modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.97653257
33substrate-dependent cell migration (GO:0006929)2.94745727
34regulation of B cell receptor signaling pathway (GO:0050855)2.91156694
35regulation of interleukin-12 biosynthetic process (GO:0045075)2.89693338
36response to fluid shear stress (GO:0034405)2.89621662
37regulation of gamma-delta T cell activation (GO:0046643)2.88914096
38positive thymic T cell selection (GO:0045059)2.88858446
39blood vessel maturation (GO:0001955)2.88136209
40regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.87893685
41wound healing, spreading of epidermal cells (GO:0035313)2.86680138
42barbed-end actin filament capping (GO:0051016)2.86625506
43positive regulation of extracellular matrix organization (GO:1903055)2.85413641
44lymph vessel development (GO:0001945)2.84780634
45negative regulation of granulocyte differentiation (GO:0030853)2.81886171
46endothelial cell chemotaxis (GO:0035767)2.81494316
47positive regulation of histone deacetylation (GO:0031065)2.80868308
48protein localization to endosome (GO:0036010)2.80024196
49positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.79743630
50germ cell migration (GO:0008354)2.79477858
51low-density lipoprotein particle clearance (GO:0034383)2.78566746
52retina vasculature morphogenesis in camera-type eye (GO:0061299)2.77743207
53growth hormone receptor signaling pathway (GO:0060396)2.75207143
54angiogenesis involved in wound healing (GO:0060055)2.74541131
55renal filtration (GO:0097205)2.69932371
56mannose metabolic process (GO:0006013)2.69523283
57tolerance induction (GO:0002507)2.67946651
58hemidesmosome assembly (GO:0031581)2.62233823
59positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.62020658
60JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.60711175
61collagen metabolic process (GO:0032963)2.60539971
62negative regulation of cell killing (GO:0031342)2.59138565
63negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.59138565
64negative regulation of complement activation (GO:0045916)2.58859585
65cell migration involved in sprouting angiogenesis (GO:0002042)2.58744140
66regulation of macrophage cytokine production (GO:0010935)2.58534608
67regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.57495420
68collagen catabolic process (GO:0030574)2.55827436
69negative regulation of protein activation cascade (GO:2000258)2.54159435
70cellular extravasation (GO:0045123)2.52563038
71positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.52004753
72positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.51907266
73glomerular filtration (GO:0003094)2.51322373
74regulation of extracellular matrix disassembly (GO:0010715)2.49605758
75negative regulation of anoikis (GO:2000811)2.49433783
76multicellular organismal macromolecule metabolic process (GO:0044259)2.49053197
77surfactant homeostasis (GO:0043129)2.48564710
78establishment of endothelial barrier (GO:0061028)2.47336726
79negative regulation of fatty acid transport (GO:2000192)2.45839785
80stress fiber assembly (GO:0043149)2.44860662
81regulation of cholesterol storage (GO:0010885)2.44661133
82detection of other organism (GO:0098543)2.44352317
83regulation of necroptotic process (GO:0060544)2.43155769
84positive regulation of natural killer cell differentiation (GO:0032825)2.43114888
85detection of molecule of bacterial origin (GO:0032490)2.42592791
86blood vessel endothelial cell migration (GO:0043534)2.42446301
87positive regulation of interferon-alpha production (GO:0032727)2.40484081
88multicellular organismal catabolic process (GO:0044243)2.39346933
89detection of external biotic stimulus (GO:0098581)2.38697483
90regulation of plasminogen activation (GO:0010755)2.37921756
91fibril organization (GO:0097435)2.37887026
92cellular response to growth hormone stimulus (GO:0071378)2.37505378
93thymic T cell selection (GO:0045061)2.37401044
94pinocytosis (GO:0006907)2.36075268
95regulation of extracellular matrix organization (GO:1903053)2.36039113
96axon extension involved in axon guidance (GO:0048846)2.35976034
97neuron projection extension involved in neuron projection guidance (GO:1902284)2.35976034
98integrin-mediated signaling pathway (GO:0007229)2.35336341
99regulation of apoptotic cell clearance (GO:2000425)2.35275780
100positive regulation of blood vessel endothelial cell migration (GO:0043536)2.34809757
101cell-substrate junction assembly (GO:0007044)2.34688576
102multicellular organismal metabolic process (GO:0044236)2.34423916
103positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.34094337
104substrate adhesion-dependent cell spreading (GO:0034446)2.32609534
105extracellular matrix disassembly (GO:0022617)2.32570929
106hyaluronan catabolic process (GO:0030214)2.31724485
107glomerular basement membrane development (GO:0032836)2.31286802
108cortical actin cytoskeleton organization (GO:0030866)2.30938498
109response to interleukin-15 (GO:0070672)2.30017622
110regulation of complement activation (GO:0030449)2.29892829
111regulation of interferon-alpha production (GO:0032647)2.29848668
112regulation of fibrinolysis (GO:0051917)2.28586528
113negative regulation of stress fiber assembly (GO:0051497)2.27794783
114negative regulation of humoral immune response (GO:0002921)2.27057864
115glomerular visceral epithelial cell development (GO:0072015)2.26884207
116positive regulation of endothelial cell apoptotic process (GO:2000353)2.26717652
117positive regulation of blood coagulation (GO:0030194)2.26637787
118positive regulation of hemostasis (GO:1900048)2.26637787
119positive regulation of p38MAPK cascade (GO:1900745)2.26447694
120venous blood vessel morphogenesis (GO:0048845)2.26401112
121negative thymic T cell selection (GO:0045060)2.25010161
122embryonic process involved in female pregnancy (GO:0060136)2.24944858
123extracellular fibril organization (GO:0043206)2.23785639
124negative regulation of erythrocyte differentiation (GO:0045647)2.22622812
125negative regulation of phagocytosis (GO:0050765)2.22328390
126regulation of protein activation cascade (GO:2000257)2.21887330
127positive regulation of macrophage cytokine production (GO:0060907)2.21859292
128regulation of macrophage chemotaxis (GO:0010758)2.21155943
129negative T cell selection (GO:0043383)2.20699793
130negative regulation of protein autophosphorylation (GO:0031953)2.20527243
131platelet-derived growth factor receptor signaling pathway (GO:0048008)2.20516955
132membrane raft organization (GO:0031579)2.19485996
133hepatocyte apoptotic process (GO:0097284)2.19096675
134regulation of metalloenzyme activity (GO:0048552)2.18747796
135vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.18741038
136detection of biotic stimulus (GO:0009595)2.18217945
137regulation of anoikis (GO:2000209)2.16475281
138negative regulation of necroptotic process (GO:0060546)2.16439085
139sprouting angiogenesis (GO:0002040)2.16032268
140detection of bacterium (GO:0016045)2.14961081
141cell-substrate adherens junction assembly (GO:0007045)2.14518039
142focal adhesion assembly (GO:0048041)2.14518039
143wound healing, spreading of cells (GO:0044319)2.14036889
144chondrocyte proliferation (GO:0035988)2.13748195
145antigen processing and presentation via MHC class Ib (GO:0002475)2.13555494
146regulation of transforming growth factor beta1 production (GO:0032908)2.13510749
147platelet degranulation (GO:0002576)2.12614603
148positive regulation of coagulation (GO:0050820)2.12022936
149regulation of T-helper 2 cell differentiation (GO:0045628)2.11219136
150mesodermal cell differentiation (GO:0048333)2.10826680
151negative regulation of interleukin-12 production (GO:0032695)2.10817437
152peptide catabolic process (GO:0043171)2.09155623
153cell migration involved in heart development (GO:0060973)2.08618057
154regulation of dendritic cell antigen processing and presentation (GO:0002604)2.07236623
155regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.05891127

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.36647761
2* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.81597611
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.60274862
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.39021629
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.04409209
6EGR1_19374776_ChIP-ChIP_THP-1_Human2.98798802
7TRIM28_21343339_ChIP-Seq_HEK293_Human2.93739990
8RARG_19884340_ChIP-ChIP_MEFs_Mouse2.85430357
9CLOCK_20551151_ChIP-Seq_293T_Human2.80579024
10STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.44318063
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.36378386
12* IRF8_27001747_Chip-Seq_BMDM_Mouse2.35082629
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.28967866
14IRF8_21731497_ChIP-ChIP_J774_Mouse2.25779260
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.21475886
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.17815229
17* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.16425040
18* RUNX_20019798_ChIP-Seq_JUKART_Human2.16155608
19RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.14709375
20ELK3_25401928_ChIP-Seq_HUVEC_Human2.11752209
21TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.02600690
22MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.96209685
23KDM2B_26808549_Chip-Seq_SUP-B15_Human1.95094290
24GATA2_21666600_ChIP-Seq_HMVEC_Human1.93268965
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.93213025
26BP1_19119308_ChIP-ChIP_Hs578T_Human1.91647912
27MYB_21317192_ChIP-Seq_ERMYB_Mouse1.91440661
28NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.90282689
29MYC_22102868_ChIP-Seq_BL_Human1.82872798
30CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.80186629
31* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.79032155
32RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.77793612
33* MAF_26560356_Chip-Seq_TH1_Human1.77657511
34ESR1_21235772_ChIP-Seq_MCF-7_Human1.76502737
35VDR_21846776_ChIP-Seq_THP-1_Human1.72482278
36BRD4_27068464_Chip-Seq_AML-cells_Mouse1.71836809
37TCF7_22412390_ChIP-Seq_EML_Mouse1.70162603
38FOXO3_23340844_ChIP-Seq_DLD1_Human1.65758330
39ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.62620010
40KDM2B_26808549_Chip-Seq_DND41_Human1.60443295
41ESR2_21235772_ChIP-Seq_MCF-7_Human1.60367672
42* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.58980754
43* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.56402270
44* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.55940329
45KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.55631920
46* MYB_26560356_Chip-Seq_TH2_Human1.55179331
47HIF1A_21447827_ChIP-Seq_MCF-7_Human1.52932862
48VDR_24763502_ChIP-Seq_THP-1_Human1.49430115
49* CJUN_26792858_Chip-Seq_BT549_Human1.48055392
50SPI1_23127762_ChIP-Seq_K562_Human1.47064662
51IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.45110711
52UTX_26944678_Chip-Seq_JUKART_Human1.42892274
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.42572634
54KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.42345751
55E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.41220724
56SCL_19346495_ChIP-Seq_HPC-7_Human1.40563538
57SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.36873864
58SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.36873864
59TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36553414
60* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.34614126
61SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.34019217
62CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.33565863
63* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.33162854
64* MYB_26560356_Chip-Seq_TH1_Human1.32523624
65SALL4_18804426_ChIP-ChIP_XEN_Mouse1.30772221
66PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.22323747
67VDR_24787735_ChIP-Seq_THP-1_Human1.22136500
68* LXR_22158963_ChIP-Seq_LIVER_Mouse1.19697810
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.19670635
70SOX9_24532713_ChIP-Seq_HFSC_Mouse1.19488952
71PPARA_22158963_ChIP-Seq_LIVER_Mouse1.19441637
72LXR_22292898_ChIP-Seq_THP-1_Human1.19198373
73* TBX20_22328084_ChIP-Seq_HEART_Mouse1.18900180
74* TBX20_22080862_ChIP-Seq_HEART_Mouse1.18900180
75* FOXA2_19822575_ChIP-Seq_HepG2_Human1.18862087
76KDM2B_26808549_Chip-Seq_JURKAT_Human1.18838844
77RUNX1_22412390_ChIP-Seq_EML_Mouse1.17967708
78SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.17646640
79EP300_21415370_ChIP-Seq_HL-1_Mouse1.17494374
80RACK7_27058665_Chip-Seq_MCF-7_Human1.17099421
81P300_27058665_Chip-Seq_ZR-75-30cells_Human1.16652951
82GATA1_22025678_ChIP-Seq_K562_Human1.16504755
83NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.16406622
84VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.16251092
85WT1_19549856_ChIP-ChIP_CCG9911_Human1.15402802
86ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.14720215
87GATA1_19941827_ChIP-Seq_MEL_Mouse1.14625646
88KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14369512
89P63_26484246_Chip-Seq_KERATINOCYTES_Human1.13935422
90* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13499396
91* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.12697117
92SMAD_19615063_ChIP-ChIP_OVARY_Human1.11847487
93* BRD4_25478319_ChIP-Seq_HGPS_Human1.11625765
94EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.11529694
95RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.11483271
96ESR1_20079471_ChIP-ChIP_T-47D_Human1.10821738
97GATA1_19941826_ChIP-Seq_K562_Human1.10637926
98SOX2_27498859_Chip-Seq_STOMACH_Mouse1.09908450
99UBF1/2_26484160_Chip-Seq_HMECs_Human1.09481420
100* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.09151883
101ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.08371403
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08270923
103SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.08045651
104PU_27001747_Chip-Seq_BMDM_Mouse1.07867873
105SOX2_20726797_ChIP-Seq_SW620_Human1.07303856
106* RXR_22158963_ChIP-Seq_LIVER_Mouse1.06076019
107GATA2_19941826_ChIP-Seq_K562_Human1.05970033
108* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05558565
109STAT6_21828071_ChIP-Seq_BEAS2B_Human1.05000971
110FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.04964195
111WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04632208
112CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03831440
113* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.02276120
114SMC1_22415368_ChIP-Seq_MEFs_Mouse1.01973533
115KDM2B_26808549_Chip-Seq_K562_Human0.96770922
116CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.95664149

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.94593557
2MP0005275_abnormal_skin_tensile3.17133779
3MP0003705_abnormal_hypodermis_morpholog2.88525796
4MP0003300_gastrointestinal_ulcer2.64368495
5MP0003279_aneurysm2.55316049
6MP0001958_emphysema2.46689145
7MP0006054_spinal_hemorrhage2.44590253
8MP0010368_abnormal_lymphatic_system2.23311739
9MP0003566_abnormal_cell_adhesion2.22303594
10MP0004272_abnormal_basement_membrane2.13844784
11MP0003191_abnormal_cellular_cholesterol2.01831702
12MP0005503_abnormal_tendon_morphology2.00973070
13MP0003303_peritoneal_inflammation2.00490770
14MP0001835_abnormal_antigen_presentation1.94800225
15MP0001879_abnormal_lymphatic_vessel1.94166015
16MP0003724_increased_susceptibility_to1.92490345
17MP0003436_decreased_susceptibility_to1.79529653
18MP0005023_abnormal_wound_healing1.70773285
19MP0002166_altered_tumor_susceptibility1.69701683
20MP0000685_abnormal_immune_system1.68824249
21MP0005058_abnormal_lysosome_morphology1.66762939
22MP0005451_abnormal_body_composition1.60249740
23MP0005387_immune_system_phenotype1.59327183
24MP0001790_abnormal_immune_system1.59327183
25MP0001533_abnormal_skeleton_physiology1.57681046
26MP0010352_gastrointestinal_tract_polyps1.57163719
27MP0002877_abnormal_melanocyte_morpholog1.53442821
28MP0003091_abnormal_cell_migration1.50842595
29MP0003045_fibrosis1.50653203
30MP0000767_abnormal_smooth_muscle1.49878303
31MP0002060_abnormal_skin_morphology1.48873313
32MP0001800_abnormal_humoral_immune1.46506262
33MP0006082_CNS_inflammation1.46335963
34MP0002933_joint_inflammation1.46065806
35MP0003950_abnormal_plasma_membrane1.45249072
36MP0002452_abnormal_antigen_presenting1.42042739
37MP0005000_abnormal_immune_tolerance1.40664629
38MP0002254_reproductive_system_inflammat1.40427604
39MP0002998_abnormal_bone_remodeling1.40349576
40MP0002419_abnormal_innate_immunity1.38921244
41MP0009278_abnormal_bone_marrow1.38380388
42MP0004510_myositis1.37663351
43MP0005671_abnormal_response_to1.37061457
44MP0000343_altered_response_to1.36955388
45MP0003828_pulmonary_edema1.36144181
46MP0006138_congestive_heart_failure1.34928257
47MP0008260_abnormal_autophagy1.34312062
48MP0009384_cardiac_valve_regurgitation1.33634002
49MP0004947_skin_inflammation1.32676766
50MP0003448_altered_tumor_morphology1.29749992
51MP0000465_gastrointestinal_hemorrhage1.28847130
52MP0005409_darkened_coat_color1.28425934
53MP0005360_urolithiasis1.27014862
54MP0008004_abnormal_stomach_pH1.25065579
55MP0002006_tumorigenesis1.21693612
56MP0002723_abnormal_immune_serum1.20295684
57MP0005464_abnormal_platelet_physiology1.19812946
58MP0004185_abnormal_adipocyte_glucose1.19752969
59MP0002420_abnormal_adaptive_immunity1.19633906
60MP0003172_abnormal_lysosome_physiology1.18794952
61MP0001819_abnormal_immune_cell1.18777723
62MP0005670_abnormal_white_adipose1.18641510
63MP0002405_respiratory_system_inflammati1.17832947
64MP0005076_abnormal_cell_differentiation1.17391627
65MP0000733_abnormal_muscle_development1.17038320
66MP0003763_abnormal_thymus_physiology1.16072754
67MP0005025_abnormal_response_to1.14426977
68MP0010155_abnormal_intestine_physiology1.13964866
69MP0005165_increased_susceptibility_to1.13001258
70MP0005257_abnormal_intraocular_pressure1.12937360
71MP0000249_abnormal_blood_vessel1.12147797
72MP0001873_stomach_inflammation1.10647701
73MP0000751_myopathy1.10126606
74MP0005390_skeleton_phenotype1.09951361
75MP0004808_abnormal_hematopoietic_stem1.08146258
76MP0002148_abnormal_hypersensitivity_rea1.07748937
77MP0000858_altered_metastatic_potential1.07310704
78MP0010234_abnormal_vibrissa_follicle1.07090288
79MP0009785_altered_susceptibility_to1.06050781
80MP0005167_abnormal_blood-brain_barrier1.05903446
81MP0004883_abnormal_blood_vessel1.05164496
82MP0003453_abnormal_keratinocyte_physiol1.04805381
83MP0005595_abnormal_vascular_smooth1.03265056
84MP0001845_abnormal_inflammatory_respons1.00807383
85MP0009840_abnormal_foam_cell0.99815852
86MP0001851_eye_inflammation0.99729536
87MP0003075_altered_response_to0.98816014
88MP0005164_abnormal_response_to0.98588960
89MP0002168_other_aberrant_phenotype0.97801127
90MP0002396_abnormal_hematopoietic_system0.97591701
91MP0005508_abnormal_skeleton_morphology0.95982951
92MP0002138_abnormal_hepatobiliary_system0.95541826
93MP0001243_abnormal_dermal_layer0.95308491
94MP0005623_abnormal_meninges_morphology0.94912127
95MP0002133_abnormal_respiratory_system0.93703757
96MP0005388_respiratory_system_phenotype0.93703757
97MP0004130_abnormal_muscle_cell0.91642773
98MP0000716_abnormal_immune_system0.89746226
99MP0005666_abnormal_adipose_tissue0.88167746
100MP0009333_abnormal_splenocyte_physiolog0.88103833
101MP0002398_abnormal_bone_marrow0.87508871
102MP0002295_abnormal_pulmonary_circulatio0.87492989
103MP0002128_abnormal_blood_circulation0.86734249
104MP0004084_abnormal_cardiac_muscle0.85396033
105MP0001915_intracranial_hemorrhage0.84848611
106MP0003795_abnormal_bone_structure0.84778612
107MP0000003_abnormal_adipose_tissue0.83551349
108MP0000013_abnormal_adipose_tissue0.83515365
109MP0003868_abnormal_feces_composition0.83289828
110MP0000689_abnormal_spleen_morphology0.82666023
111MP0001853_heart_inflammation0.82237079
112MP0000604_amyloidosis0.82076793
113MP0001849_ear_inflammation0.81840667
114MP0005375_adipose_tissue_phenotype0.81823748
115MP0005397_hematopoietic_system_phenotyp0.80920985
116MP0001545_abnormal_hematopoietic_system0.80920985
117MP0002896_abnormal_bone_mineralization0.80692975
118* MP0001614_abnormal_blood_vessel0.79277972
119MP0001542_abnormal_bone_strength0.78690571
120MP0004484_altered_response_of0.77384422
121MP0004036_abnormal_muscle_relaxation0.77125215
122MP0004858_abnormal_nervous_system0.76514610

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)4.81569419
2Premature rupture of membranes (HP:0001788)4.44793568
3* Aortic dissection (HP:0002647)3.96436263
4Ankle contracture (HP:0006466)3.74250877
5Broad metatarsal (HP:0001783)3.72721105
6* Cerebral aneurysm (HP:0004944)3.68182391
7Hematochezia (HP:0002573)3.60187666
8* Aortic aneurysm (HP:0004942)3.53270440
9Systemic lupus erythematosus (HP:0002725)3.40794098
10Osteolytic defects of the hand bones (HP:0009699)3.33081061
11Osteolytic defects of the phalanges of the hand (HP:0009771)3.33081061
12Atrophic scars (HP:0001075)3.26543807
13Spondylolisthesis (HP:0003302)3.25035369
14Shallow orbits (HP:0000586)3.22334390
15Deep venous thrombosis (HP:0002625)3.12076547
16* Mitral valve prolapse (HP:0001634)3.11428288
17Cervical subluxation (HP:0003308)3.07614940
18Spontaneous hematomas (HP:0007420)2.96405101
19Peritonitis (HP:0002586)2.83126914
20* Dilatation of the ascending aorta (HP:0005111)2.70226538
21Interstitial pulmonary disease (HP:0006530)2.63602257
22Increased connective tissue (HP:0009025)2.63184244
23Eczematoid dermatitis (HP:0000976)2.58325959
24Myocardial infarction (HP:0001658)2.55068039
25Soft skin (HP:0000977)2.54654730
26Orchitis (HP:0100796)2.53250793
27Dysostosis multiplex (HP:0000943)2.49720583
28Menorrhagia (HP:0000132)2.47640617
29Ulnar bowing (HP:0003031)2.45436009
30Hemorrhage of the eye (HP:0011885)2.45397997
31Type 1 muscle fiber predominance (HP:0003803)2.44981821
32Abnormality of the nasal mucosa (HP:0000433)2.43003982
33Joint hemorrhage (HP:0005261)2.42785257
34Glomerulonephritis (HP:0000099)2.42561177
35Fragile skin (HP:0001030)2.41165950
36Recurrent gram-negative bacterial infections (HP:0005420)2.39700171
37Increased density of long bones (HP:0006392)2.39626682
38Complement deficiency (HP:0004431)2.32187544
39Amyloidosis (HP:0011034)2.30641525
40* Aneurysm (HP:0002617)2.29549492
41Wrist flexion contracture (HP:0001239)2.27959975
42Camptodactyly of toe (HP:0001836)2.26038270
43Follicular hyperkeratosis (HP:0007502)2.24973554
44Nephritis (HP:0000123)2.24385471
45Persistence of primary teeth (HP:0006335)2.20340149
46Bladder diverticulum (HP:0000015)2.19278897
47Genu recurvatum (HP:0002816)2.17908876
48Gingival bleeding (HP:0000225)2.15507533
49Mitral stenosis (HP:0001718)2.15124063
50Epistaxis (HP:0000421)2.14866941
51Polycythemia (HP:0001901)2.14407697
52Increased cerebral lipofuscin (HP:0011813)2.13160225
53Nonimmune hydrops fetalis (HP:0001790)2.12729335
54Abnormality of macrophages (HP:0004311)2.12255302
55Thin bony cortex (HP:0002753)2.11933072
56Gastrointestinal infarctions (HP:0005244)2.11730458
57Vertebral compression fractures (HP:0002953)2.11278763
58Mucopolysacchariduria (HP:0008155)2.11176620
59Urinary glycosaminoglycan excretion (HP:0003541)2.11176620
60Gingivitis (HP:0000230)2.10012045
61Emphysema (HP:0002097)2.08754834
62* Blue sclerae (HP:0000592)2.08474008
63* Vascular tortuosity (HP:0004948)2.07726424
64Abnormality of the common coagulation pathway (HP:0010990)2.07348526
65Colitis (HP:0002583)2.05984090
66Wormian bones (HP:0002645)2.04796181
67Cardiovascular calcification (HP:0011915)2.03963152
68Autoimmune thrombocytopenia (HP:0001973)2.03759195
69Slender build (HP:0001533)2.02443701
70Flat acetabular roof (HP:0003180)2.01394199
71Prolonged bleeding time (HP:0003010)1.99483686
72Myositis (HP:0100614)1.98863860
73* Disproportionate tall stature (HP:0001519)1.98499428
74Spinal rigidity (HP:0003306)1.98373060
75Abnormality of complement system (HP:0005339)1.98144412
76* Striae distensae (HP:0001065)1.97460250
77Cellulitis (HP:0100658)1.97083918
78Retrobulbar optic neuritis (HP:0100654)1.96890825
79Optic neuritis (HP:0100653)1.96890825
80Mitral regurgitation (HP:0001653)1.95878365
81Pustule (HP:0200039)1.95293671
82Joint stiffness (HP:0001387)1.94439453
83Abnormality of mucopolysaccharide metabolism (HP:0011020)1.94306790
84Abnormality of polysaccharide metabolism (HP:0011012)1.94306790
85Abnormality of glycosaminoglycan metabolism (HP:0004371)1.94306790
86* Arterial tortuosity (HP:0005116)1.94250830
87Ovoid vertebral bodies (HP:0003300)1.94133341
88Abnormality of the acetabulum (HP:0003170)1.93748602
89Recurrent abscess formation (HP:0002722)1.92991391
90Coxa vara (HP:0002812)1.92349352
91Subacute progressive viral hepatitis (HP:0006572)1.92039738
92Vacuolated lymphocytes (HP:0001922)1.91049218
93Ectopia lentis (HP:0001083)1.90903048
94Elevated erythrocyte sedimentation rate (HP:0003565)1.89508357
95Esophageal varix (HP:0002040)1.89456670
96Abnormality of carpal bone ossification (HP:0006257)1.88825012
97Recurrent bronchitis (HP:0002837)1.88775125
98Chronic otitis media (HP:0000389)1.87775564
99Asymmetric septal hypertrophy (HP:0001670)1.86541892
100Absent frontal sinuses (HP:0002688)1.85061019
101Pulmonary infiltrates (HP:0002113)1.82926948
102Inflammation of the large intestine (HP:0002037)1.82843969
103Abnormality of the peritoneum (HP:0002585)1.82698071
104Aortic regurgitation (HP:0001659)1.81682788
105Overgrowth (HP:0001548)1.81545668
106Flexion contracture of toe (HP:0005830)1.81241615
107Joint contractures involving the joints of the feet (HP:0100492)1.81241615
108Distal lower limb muscle weakness (HP:0009053)1.80589894
109Increased variability in muscle fiber diameter (HP:0003557)1.79164824
110Nasal polyposis (HP:0100582)1.78647887
111Recurrent bacterial skin infections (HP:0005406)1.78503428
112Bowing of the arm (HP:0006488)1.78294297
113Bowed forearm bones (HP:0003956)1.78294297
114Broad face (HP:0000283)1.78007355
115Right ventricular cardiomyopathy (HP:0011663)1.77897022
116Glucose intolerance (HP:0000833)1.76472918
117Gastrointestinal inflammation (HP:0004386)1.75721961
118Radial bowing (HP:0002986)1.75313266
119Abnormal platelet volume (HP:0011876)1.74757291
120Abnormal ossification of hand bones (HP:0005921)1.74729521
121Arterial thrombosis (HP:0004420)1.73981216
122Abnormality of skeletal muscle fiber size (HP:0012084)1.73877161
123Short nail (HP:0001799)1.73720257
124* Joint laxity (HP:0001388)1.73181379
125Conjunctival telangiectasia (HP:0000524)1.72759496
126Increased neuronal autofluorescent lipopigment (HP:0002074)1.71780867
127Distal lower limb amyotrophy (HP:0008944)1.71616874
128Syringomyelia (HP:0003396)1.71226567
129Spinal cord lesions (HP:0100561)1.71226567
130Mesangial abnormality (HP:0001966)1.70573350
131Purpura (HP:0000979)1.70323117
132Elbow flexion contracture (HP:0002987)1.69926736
133Skin nodule (HP:0200036)1.69879189
134Flared iliac wings (HP:0002869)1.69606862
135Thick nail (HP:0001805)1.69599139
136Increased mean platelet volume (HP:0011877)1.69556535
137Keratoconjunctivitis sicca (HP:0001097)1.68170611
138Hypertriglyceridemia (HP:0002155)1.67921759

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB33.29125555
2ERN12.97766645
3MAP4K12.92711544
4TTN2.91241968
5* TGFBR22.76069238
6PKN22.45116721
7STK102.30175689
8KDR2.24506992
9PRPF4B2.14995423
10TIE12.08731573
11FGFR42.08082732
12TYK22.04369894
13EPHB12.02932378
14MAP3K102.00065949
15JAK11.93178961
16SIK11.89114481
17LRRK21.84264038
18EEF2K1.80661488
19FES1.76943301
20RIPK11.75331300
21JAK31.70900903
22PTK61.67129526
23CAMK1D1.61714153
24PDGFRA1.61624352
25ZAP701.58575277
26BLK1.55626571
27ITK1.54697687
28TBK11.53264587
29FGFR31.52055120
30EPHA31.44734069
31PAK41.42786644
32CSF1R1.42272262
33MAP2K31.38453919
34CDC42BPA1.37123345
35DMPK1.34190895
36CSK1.32789947
37MAP3K131.27643691
38KIT1.25097298
39RIPK41.23666047
40MAP3K31.22409993
41CAMK1G1.21623382
42NEK91.18512219
43DDR21.16215560
44MAP3K61.13832380
45ICK1.13258715
46MAP3K11.06918131
47TRPM71.05653051
48KSR21.05461090
49HCK1.04399429
50RPS6KA41.00593947
51MAP3K141.00099242
52PDGFRB0.99357346
53PAK20.98388995
54IKBKE0.97224667
55EPHB20.96630056
56TGFBR10.96149170
57GRK60.95395143
58STK380.94792383
59TXK0.93400970
60LATS10.91238559
61PDPK10.91170984
62SMG10.90124640
63PRKCH0.88415293
64BTK0.87393918
65NLK0.87273887
66MARK20.86657617
67MAP3K20.86324091
68JAK20.82649732
69BMX0.82648199
70CHUK0.82242766
71PTK20.81725963
72CDK60.81593234
73MYLK0.80951321
74FGFR20.80032041
75TEC0.79595694
76IKBKB0.79305806
77NTRK10.78361399
78LCK0.75839934
79MARK30.75343522
80MET0.73457904
81STK30.71594803
82PTK2B0.70855320
83MAP3K70.70627048
84PRKG20.69371115
85CDK120.67270948
86MAPK70.66811122
87SGK30.65052333
88FER0.64935695
89PDK10.64482417
90WNK10.62682653
91PRKD10.61781670
92TESK10.61560156
93MAP3K110.60797801
94PRKAA20.59105711
95FGR0.58135449
96MST1R0.57367445
97MST40.57218680
98IRAK10.57047782
99CDK90.56741659
100PRKD20.56380996
101ILK0.55768091
102IRAK30.55749612
103MAPK120.55254561
104MELK0.55101043
105INSR0.54992483
106HIPK20.54832847
107MTOR0.54677855
108FRK0.54058615
109LATS20.53346943
110PIK3CG0.53060601
111RPS6KA20.51372555
112GSK3A0.51341880
113IGF1R0.50617897
114MAPK150.50603578
115SCYL20.50537062
116FLT30.50498074
117CLK10.50218966
118IRAK40.49785259
119MAPK110.49129107
120EGFR0.49108867
121RET0.48605268
122MOS0.48417246
123FGFR10.48144179
124LMTK20.47356110
125CAMKK20.47008757
126SYK0.46783751
127MAPKAPK30.46731606
128TAOK20.46699461
129PIM10.46689766
130EPHA20.41376402
131ABL10.40772212
132MAPKAPK20.40270348
133NUAK10.39364167
134LYN0.38980922

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051502.39274590
2ECM-receptor interaction_Homo sapiens_hsa045122.26760456
3Glycosaminoglycan degradation_Homo sapiens_hsa005312.18358862
4* Osteoclast differentiation_Homo sapiens_hsa043802.07760092
5Leishmaniasis_Homo sapiens_hsa051402.01472869
6Focal adhesion_Homo sapiens_hsa045101.93901095
7Toxoplasmosis_Homo sapiens_hsa051451.87293630
8B cell receptor signaling pathway_Homo sapiens_hsa046621.86862331
9Leukocyte transendothelial migration_Homo sapiens_hsa046701.85321569
10* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.84314612
11Malaria_Homo sapiens_hsa051441.82899228
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.65152902
13Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.65062530
14Other glycan degradation_Homo sapiens_hsa005111.65012373
15NF-kappa B signaling pathway_Homo sapiens_hsa040641.60005773
16Small cell lung cancer_Homo sapiens_hsa052221.58510893
17Amoebiasis_Homo sapiens_hsa051461.55367067
18Primary immunodeficiency_Homo sapiens_hsa053401.55231879
19Viral myocarditis_Homo sapiens_hsa054161.53551751
20Antigen processing and presentation_Homo sapiens_hsa046121.53353104
21Lysosome_Homo sapiens_hsa041421.51983136
22Proteoglycans in cancer_Homo sapiens_hsa052051.49469324
23Hematopoietic cell lineage_Homo sapiens_hsa046401.43118483
24Toll-like receptor signaling pathway_Homo sapiens_hsa046201.41847095
25* Chronic myeloid leukemia_Homo sapiens_hsa052201.41771296
26Measles_Homo sapiens_hsa051621.41365857
27Pertussis_Homo sapiens_hsa051331.41025437
28Caffeine metabolism_Homo sapiens_hsa002321.38911584
29Platelet activation_Homo sapiens_hsa046111.37553719
30* Adherens junction_Homo sapiens_hsa045201.31811617
31Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.30395140
32Complement and coagulation cascades_Homo sapiens_hsa046101.29252040
33Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.27721667
34TNF signaling pathway_Homo sapiens_hsa046681.26629246
35T cell receptor signaling pathway_Homo sapiens_hsa046601.26487217
36* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.24235100
37* Pancreatic cancer_Homo sapiens_hsa052121.23812472
38Tuberculosis_Homo sapiens_hsa051521.21113443
39Jak-STAT signaling pathway_Homo sapiens_hsa046301.16958172
40Intestinal immune network for IgA production_Homo sapiens_hsa046721.15843513
41Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.12362113
42Shigellosis_Homo sapiens_hsa051311.11512038
43Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.10588782
44Apoptosis_Homo sapiens_hsa042101.09313804
45Acute myeloid leukemia_Homo sapiens_hsa052211.09212131
46Hepatitis B_Homo sapiens_hsa051611.07206704
47Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05048502
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.04154723
49Salmonella infection_Homo sapiens_hsa051321.02003548
50Legionellosis_Homo sapiens_hsa051340.97856844
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.97490953
52Chemokine signaling pathway_Homo sapiens_hsa040620.97127553
53Protein digestion and absorption_Homo sapiens_hsa049740.96561644
54Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.95503049
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.93239529
56Insulin resistance_Homo sapiens_hsa049310.92915964
57* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.92054620
58Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.91949061
59Influenza A_Homo sapiens_hsa051640.89375013
60Dilated cardiomyopathy_Homo sapiens_hsa054140.89131859
61Renal cell carcinoma_Homo sapiens_hsa052110.87643440
62Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.87331646
63Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86952342
64VEGF signaling pathway_Homo sapiens_hsa043700.86081772
65Notch signaling pathway_Homo sapiens_hsa043300.85670215
66PI3K-Akt signaling pathway_Homo sapiens_hsa041510.85444298
67Adipocytokine signaling pathway_Homo sapiens_hsa049200.85101939
68MicroRNAs in cancer_Homo sapiens_hsa052060.84959607
69Rap1 signaling pathway_Homo sapiens_hsa040150.79069992
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75733711
71African trypanosomiasis_Homo sapiens_hsa051430.75186262
72* HTLV-I infection_Homo sapiens_hsa051660.75180826
73Hepatitis C_Homo sapiens_hsa051600.75084327
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.75047569
75* Endocytosis_Homo sapiens_hsa041440.74981697
76Thyroid cancer_Homo sapiens_hsa052160.74180431
77GnRH signaling pathway_Homo sapiens_hsa049120.72038179
78Allograft rejection_Homo sapiens_hsa053300.71784621
79PPAR signaling pathway_Homo sapiens_hsa033200.71746349
80* Pathways in cancer_Homo sapiens_hsa052000.70563084
81Autoimmune thyroid disease_Homo sapiens_hsa053200.69814475
82Prostate cancer_Homo sapiens_hsa052150.68255553
83Sphingolipid signaling pathway_Homo sapiens_hsa040710.66602700
84NOD-like receptor signaling pathway_Homo sapiens_hsa046210.66111554
85Phagosome_Homo sapiens_hsa041450.65429428
86Prolactin signaling pathway_Homo sapiens_hsa049170.64925643
87HIF-1 signaling pathway_Homo sapiens_hsa040660.64600738
88RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.63629410
89Choline metabolism in cancer_Homo sapiens_hsa052310.63031387
90Non-small cell lung cancer_Homo sapiens_hsa052230.62830587
91Herpes simplex infection_Homo sapiens_hsa051680.62547352
92Rheumatoid arthritis_Homo sapiens_hsa053230.62425498
93* Colorectal cancer_Homo sapiens_hsa052100.62185885
94Renin-angiotensin system_Homo sapiens_hsa046140.61834968
95Bladder cancer_Homo sapiens_hsa052190.61021201
96Prion diseases_Homo sapiens_hsa050200.59372588
97* TGF-beta signaling pathway_Homo sapiens_hsa043500.58389323
98Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57908359
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57791254
100* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.57752063
101Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.56508830
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56446648
103Endometrial cancer_Homo sapiens_hsa052130.56262411
104Insulin signaling pathway_Homo sapiens_hsa049100.55904407
105Viral carcinogenesis_Homo sapiens_hsa052030.55024428
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.51578347
107* FoxO signaling pathway_Homo sapiens_hsa040680.51200091
108mTOR signaling pathway_Homo sapiens_hsa041500.51102233
109Inositol phosphate metabolism_Homo sapiens_hsa005620.51027375
110Vascular smooth muscle contraction_Homo sapiens_hsa042700.50995236
111Ras signaling pathway_Homo sapiens_hsa040140.50344140
112Fatty acid biosynthesis_Homo sapiens_hsa000610.50330816
113Glioma_Homo sapiens_hsa052140.50125640
114Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47393811
115Dorso-ventral axis formation_Homo sapiens_hsa043200.46924545
116Graft-versus-host disease_Homo sapiens_hsa053320.45403482
117Lysine degradation_Homo sapiens_hsa003100.43573019

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